ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658800683
Gene: SCNN1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499404
ClinVar RCV Id:
RCV000594991
RCV003317295
RCV002506417
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000327.2:p.Ser635Asn
CA7960676
NM_000336.3:c.1904G>A